Canonical Allele Identifier: PA353444
Gene: HCFC1 HGNC NCBI
ClinVar RCV:
RCV000209921
ClinVar Variation:
224121
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005325.2:p.Pro1683Arg
CA353443
NM_005334.3:c.5048C>G