Allele Registry

Canonical Allele Identifier: PA052532

Gene: FA2H HGNC NCBI

ClinVar RCV:

RCV001854843

RCV002624250

ClinVar Variation:

242579

2194147

HGVS (amino-acid)	Matching Registered Transcripts
NP_077282.3:p.Phe39Leu	CA052525 NM_024306.5:c.117C>A CA396768381 NM_024306.5:c.117C>G CA396768386 NM_024306.5:c.115T>C