ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741810153
Gene: COL1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2630276
ClinVar RCV Id:
RCV004550623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000079.2:p.Pro313Thr
CA400221694
NM_000088.4:c.937C>A