ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066775
Gene: ABCC6
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001162.5:p.Pro1483Leu
NM_001171.6:c.4448C>T