ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA204893
Gene: HCFC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208779
ClinVar RCV Id:
RCV000190805
RCV001814098
RCV001818463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005325.2:p.Thr1119Ile
CA204892
NM_005334.3:c.3356C>T