ClinGen Allele Registry
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Canonical Allele Identifier:
PA645452422
Gene: COL1A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
413974
ClinVar RCV:
RCV000490692
RCV000490761
RCV002272256
ClinVar Variation:
425626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Gly1272Val
CA400194038
NM_000088.4:c.3815G>T