ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416361
Gene: HCFC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435408
ClinVar RCV Id:
RCV000499852
RCV003638674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005325.2:p.Thr405Met
CA10557538
NM_005334.3:c.1214C>T