ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826624229
Gene: SMC1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
568388
ClinVar RCV Id:
RCV000688735
RCV001816703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268392.1:p.Ile1040Met
CA10420320
NM_001281463.1:c.3120C>G