Canonical Allele Identifier: PA1139680485
Gene: ASPA HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121557.1:p.His244Pro
CA397686325
NM_001128085.1:c.731A>C