ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915966782
Gene: LAMA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000505761
RCV000674785
RCV000802006
ClinVar Variation:
162573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073291.2:p.Ser146Phe
CA295383
NM_001079823.2:c.437C>T