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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA2695238438
Gene: F8
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154992934_154992938del , CM000685.2:g.154992934_154992938del
GRCh38
NC_000023.10:g.154221209_154221213del , CM000685.1:g.154221209_154221213del
GRCh37
NC_000023.9:g.153874403_153874407del
NCBI36
NG_011403.1:g.34789_34793del
NG_011403.2:g.34789_34793del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000360256.9:c.601+1_601+5del
ENST00000647125.1:c.*387+1_*387+5del
ENST00000360256.8:c.601+1_601+5del
ENST00000423959.5:c.496+1_496+5del
NM_000132.3:c.601+1_601+5del
XM_011531126.1:c.496+1_496+5del
NM_000132.4:c.601+1_601+5del
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