Canonical Allele Identifier: PA097796
Gene: GALNS HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000503.1:p.Asn204Lys
CA251563
NM_000512.5:c.612C>G
CA397081177
NM_000512.5:c.612C>A