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: PA253429

Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 5200

ClinVar RCV Id: RCV000005510

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_473368.1:p.Cys339Arg	CA253428 NM_054027.6:c.1015T>C