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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:
CA2749546803
Gene: CYP1B1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.38076321_38076322del , CM000664.2:g.38076321_38076322del
GRCh38
NC_000002.11:g.38303463_38303464del , CM000664.1:g.38303463_38303464del
GRCh37
NC_000002.10:g.38156967_38156968del
NCBI36
NG_008386.2:g.4780_4781del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000494864.1:c.-70-5012_-70-5011del
ENSP00000479876.1:n.-70-5012_-70-5011del
XM_011533236.1:c.935_936del
XP_011531538.1:p.Phe312TyrfsTer13
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