Allele Registry

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.

Canonical Allele Identifier: PA2580220685

Gene: AHDC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1903111

ClinVar RCV Id: RCV002572960

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358857.1:p.Thr718Ser	CA19876614 NM_001371928.1:c.2153C>G CA339232584 NM_001371928.1:c.2152A>T