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: PA2828938992

Gene: HFE HGNC NCBI

Linked Data

ClinVar Variation Id: 11

ClinVar RCV Id: RCV000000028 RCV000290779 RCV000764641 RCV000998547 RCV001328435 RCV004532264 RCV003224085

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001371093.1:p.Ser65Cys	CA339778 NM_001384164.1:c.193A>T