ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828612549
Gene: MAP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252604
ClinVar RCV Id:
RCV000239245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362436.1:p.Ala748Ser
CA2081902
NM_001375507.1:c.2242G>T