ClinGen Allele Registry
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Canonical Allele Identifier:
PA645452414
Gene: COL1A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000526752
RCV001712452
RCV002455947
RCV003488631
RCV004551617
ClinVar Variation:
426558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Arg1227His
CA8644376
NM_000088.4:c.3680G>A