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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:
CA1515325391
Gene: HAFML
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.176666846_176666847delinsGT , CM000666.2:g.176666846_176666847delinsGT
GRCh38
NC_000004.11:g.177587997_177587998delinsGT , CM000666.1:g.177587997_177587998delinsGT
GRCh37
NC_000004.10:g.177824991_177824992delinsGT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_939498.1:n.121-2775_121-2774delinsGT
XR_939499.1:n.121-2775_121-2774delinsGT
XR_939498.2:n.208-2775_208-2774delinsGT
XR_939499.2:n.204-2775_204-2774delinsGT
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